Abstract
Background: Muscle biopsy is a common diagnostic marker for myopathy assessment; however, it has a relatively low pathologic yield of less than 60%. Additionally, both diagnostic and non-diagnostic muscle biopsies can provide guidance for treatment, i.e, provide therapeutic usefulness.Purpose: We designed a study to determine if having a documented definitive preoperative differential diagnosis would affect the pathologic yield and therapeutic usefulness of muscle biopsies for myopathy. Methods: This was a retrospective, single institution chart review of 106 consecutive muscle biopsies in adult patients, which looked at the presence or absence of a definitive preoperative differential diagnosis and relation to diagnostic yield and therapeutic usefulness of muscle biopsies. Results: Of 106 muscle biopsies, 50 biopsies (47%) had a definitive preoperative differential diagnosis, 52 biopsies (49%) returned definitive pathology, and 93 biopsies (88%) provided therapeutic information. The presence of a documented differential diagnosis increased the odds of pathologic yield by 3.73 (p-value < 0.01) and therapeutic usefulness by 3.40 (p-value 0.08). If pathology was diagnostic then the therapeutic usefulness of the biopsy was 4.54 times more likely (p-value < 0.01). Conclusion: Documentation of a definitive preoperative differential diagnosis, when pursuing muscle biopsy for myopathy, is associated with an increased pathologic diagnostic yield. Definitive pathology was associated with an increase in the therapeutic usefulness of the muscle biopsy.
Highlights
Muscle biopsy is a useful tool in the evaluation of neuromuscular conditions, especially myopathy, and is often considered the gold standard for diagnosis [1,2]
Muscle biopsy is associated with inherent surgical risks and notable cost compared with non-surgical evaluations, including history and physical examination, laboratory evaluation, imaging, nerve conduction study (NCS) or electromyography (EMG) [1,3,4,5,6]
The referrals for muscle biopsy came from neurology (68%), rheumatology (29%), family medicine (1%), oncology (1%), and gastroenterology (1%)
Summary
Muscle biopsy is a useful tool in the evaluation of neuromuscular conditions, especially myopathy, and is often considered the gold standard for diagnosis [1,2]. We set out to determine if the presence of a documented differential diagnosis increased the therapeutic or diagnostic yield of a muscle biopsy using a retrospective chart review. Muscle biopsy is a common diagnostic marker for myopathy assessment; it has a relatively low pathologic yield of less than 60%. Both diagnostic and non-diagnostic muscle biopsies can provide guidance for treatment, i.e, provide therapeutic usefulness. Purpose: We designed a study to determine if having a documented definitive preoperative differential diagnosis would affect the pathologic yield and therapeutic usefulness of muscle biopsies for myopathy
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